MNX1 (homeo box HB9)
2003-12-01 Anne RM von Bergh , H Berna Beverloo AffiliationAfdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
Identity
HGNC
LOCATION
7q36.3
LOCUSID
ALIAS
HB9,HLXB9,HOXHB9,SCRA1
FUSION GENES
DNA/RNA
Description
3 exons stretched over an area of 5-6 kb.
Transcription
In a telomere to centromere direction; 2061 bp mRNA, 1206 bp open reading frame.
Proteins
Description
The homeobox gene HLXB9 encodes the nuclear protein HB9. The protein contains a polyalanine repeat region and a homeobox domain.
Expression
Expressed in lymphoid and pancreatic tissues. Highly expressed in CD34+ bone marrow cells, down regulated upon differentiation.
Localisation
Nuclear
Function
Putative transcription factor.
Homology
Related to Mnr2.
Mutations
Note
Mutations in HLXB9 cause an autosomal dominant form of sacral agenesis, known as Currarino syndrome.
Implicated in
Entity name
t(7;12)(q36;p13) - associated infant acute myeloid leukemia (AML)
Prognosis
Prognosis probably poor: median survival is 13 months.
Cytogenetics
t(7;12)(q36;p13), but not always visible by chromosome banding; may also be misdiagnosed as del(12)(p13).
Hybrid gene
5 HLXB9 _ 3 ETV6
Fig. 3. Schematic representation of the HLXB9 and ETV6 proteins and the putative HLXB9-ETV6 chimeric protein resulting from the t(7;12)(q36;p13). Arrow, the observed breakpoints. nt numbers (cDNA level) are given above each protein, and amino acid numbers are given in bold type below each protein.
Fusion protein
N-term HLXB9, including its polyalanine repeat, is fused to a large C-term part of the ETV6 protein including its HLH domain and ETS domain; the homeobox domain of HLXB9 is not retained in the fusion protein; the reciprocal transcript is not expressed.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11454678 | 2001 | Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13). | Beverloo HB et al |
| 7914194 | 1994 | A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. | Harrison KA et al |
| 9843207 | 1998 | A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. | Ross AJ et al |
Other Information
Locus ID:
NCBI: 3110
MIM: 142994
HGNC: 4979
Ensembl: ENSG00000130675
Variants:
dbSNP: 3110
ClinVar: 3110
TCGA: ENSG00000130675
COSMIC: MNX1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Maturity onset diabetes of the young | KEGG | ko04950 |
| Maturity onset diabetes of the young | KEGG | hsa04950 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37317878 | 2024 | Aberrant MNX1 expression associated with t(7;12)(q36;p13) pediatric acute myeloid leukemia induces the disease through altering histone methylation. | 3 |
| 37317878 | 2024 | Aberrant MNX1 expression associated with t(7;12)(q36;p13) pediatric acute myeloid leukemia induces the disease through altering histone methylation. | 3 |
| 34953915 | 2022 | MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous Neoplasm Lineages. | 11 |
| 35583991 | 2022 | An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages. | 6 |
| 36429006 | 2022 | Pan-Cancer Analysis Identifies MNX1 and Associated Antisense Transcripts as Biomarkers for Cancer. | 0 |
| 34953915 | 2022 | MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous Neoplasm Lineages. | 11 |
| 35583991 | 2022 | An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages. | 6 |
| 36429006 | 2022 | Pan-Cancer Analysis Identifies MNX1 and Associated Antisense Transcripts as Biomarkers for Cancer. | 0 |
| 33590038 | 2021 | Long noncoding RNA MNX1-AS1 functions as a competing endogenous RNA to regulate epithelial-mesenchymal transition by sponging MiR-744-5p in colorectal cancer. | 2 |
| 33602141 | 2021 | Global transcriptome profile of the developmental principles of in vitro iPSC-to-motor neuron differentiation. | 17 |
| 33650152 | 2021 | Presacral neuroendocrine tumors associated with the Currarino syndrome. | 1 |
| 33590038 | 2021 | Long noncoding RNA MNX1-AS1 functions as a competing endogenous RNA to regulate epithelial-mesenchymal transition by sponging MiR-744-5p in colorectal cancer. | 2 |
| 33602141 | 2021 | Global transcriptome profile of the developmental principles of in vitro iPSC-to-motor neuron differentiation. | 17 |
| 33650152 | 2021 | Presacral neuroendocrine tumors associated with the Currarino syndrome. | 1 |
| 32571425 | 2020 | Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome. | 4 |
Citation
Anne RM von Bergh ; H Berna Beverloo
MNX1 (homeo box HB9)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/393/chromosome-explorer/tumors-explorer/
